Canonical Allele Identifier: CA1951642

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168976637G>T , CM000664.2:g.168976637G>T	GRCh38
NC_000002.11:g.169833147G>T , CM000664.1:g.169833147G>T	GRCh37
NC_000002.10:g.169541393G>T	NCBI36
NG_007374.1:g.59687C>A
NG_007374.2:g.59760C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1248C>A MANE Select	NP_003733.2:p.Ile416=
ENST00000650372.1:c.1248C>A MANE Select	ENSP00000497931.1:p.Ile416=
NM_003742.2:c.1248C>A	NP_003733.2:p.Ile416=
ENST00000263817.6:c.1248C>A	ENSP00000263817.6:p.Ile416=
XM_006712817.2:c.1290C>A	XP_006712880.1:p.Ile430=
XM_006712817.3:c.1290C>A	XP_006712880.1:p.Ile430=
XM_011512077.1:c.1350C>A	XP_011510379.1:p.Ile450=
XM_011512077.2:c.1350C>A	XP_011510379.1:p.Ile450=
XM_011512078.1:c.1350C>A	XP_011510380.1:p.Ile450=
XM_011512078.2:c.1350C>A	XP_011510380.1:p.Ile450=
XM_011512079.1:c.1350C>A	XP_011510381.1:p.Ile450=
XM_011512080.1:c.1350C>A	XP_011510382.1:p.Ile450=
XM_011512080.2:c.1350C>A	XP_011510382.1:p.Ile450=
XM_017005165.1:c.1350C>A	XP_016860654.1:p.Ile450=
XM_017005166.1:c.579C>A	XP_016860655.1:p.Ile193=
XM_017005167.1:c.33C>A	XP_016860656.1:p.Ile11=